Variant report
| Variant | esv3360253 |
|---|---|
| Chromosome Location | chr9:100505952-100506324 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
(count:2 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-NCBP1-1 | chr9:100505868-100507217 | NONHSAT133532 |
| 2 | lnc-NCBP1-1 | chr9:100505490-100507217 | ENSG00000260677.1 |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs570209155 | chr9:100505974-100505975 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 2 | rs2808700 | chr9:100506020-100506021 | Weak transcription | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 3 | rs181926260 | chr9:100506050-100506051 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs367980250 | chr9:100506071-100506072 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 5 | rs561255694 | chr9:100506098-100506099 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 6 | rs117104472 | chr9:100506103-100506104 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 7 | rs377168759 | chr9:100506116-100506117 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 8 | rs2808701 | chr9:100506208-100506209 | Weak transcription | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs541733018 | chr9:100506231-100506232 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 10 | rs2808702 | chr9:100506252-100506253 | Weak transcription | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs184977609 | chr9:100506298-100506299 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 12 | rs189735495 | chr9:100506303-100506304 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:75)
| Disease | PMID | Source |
|---|---|---|
| Chordoma | 18071362 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Chordoma | 21602918 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| microdeletion syndrome | 16199537 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Cancer | 20164919 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Autism | 22495311 | CNVD |
| Melanoma | 18172304 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 16751803 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Leukemia | 17361228 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Glioblastoma | 16823260 | CNVD |
| Leukemia | 18688285 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Brain cancer | 20823417 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Heart disease | 21282601 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Cardiac fibroma | 18329553 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Basal cell nevus syndrome | 21572526 | CNVD |
| Mental retardation | 19951919 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| 9q22.3 microdeletion syndrome | 22283845 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| overgrowth syndrome | 16570072 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Nicotine dependence | 17160897 | CNVD |
| Mantle cell lymphoma | 19029149 | CNVD |
| Melanoma | 20877625 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:100504000-100514000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr9:100505400-100509600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
